Mixed hepatic porphyria,[1] Mixed porphyria,[1] South African genetic porphyria,[1]: 525 and South African porphyria.[2]
Protoporphyrinogen IX
Specialty
Endocrinology
Symptoms
skin problems,
Enzyme difficiency.
Causes
genetic mutations.
Treatment
liver transplants.
Variegate porphyria, also known by several other names, is an autosomal dominant porphyria[3] that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.
^ abcJames, William D, Berger, Timothy G, et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
^Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
^"porphyria variegata" at Dorland's Medical Dictionary
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